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Institute of Metabolic Disease at Baylor Research Institute
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Carnitine-Acylcarnitine Translocase (CACT) Enzyme Assay
Mitochondrial carnitine-acylcarnitine translocase (CACT) deficiency is an autosomal recessive disorder of fatty-acid oxidation. This disorder in newborns is a generalized lethal disease with reduced CACT activity. The carnitine-acylcarnitine translocase (CACT) enzyme assay is a definitive diagnosis.
Department: Molecular Diagnostics
Methodology: Quantitative carnitine-acylcarnitine translocase measurements using
(2-14C)-Pyruvate
Sample:
• Fibroblasts – 2 confluent T-25 flasks
• Amniocytes – This prenatal RESEARCH test must be approved by the IMD Medical Director or the Molecular Diagnostics Laboratory Director. Please call 214-820-4533 for further information.
Special Note: This research test must be coordinated through the Molecular Diagnostics Laboratory Director. Most research tests are performed on a batch basis; the laboratory may be unable to perform single sample testing. Contact the Molecular Diagnostics Laboratory Director for more information.
Shipping:
Fibroblasts: Ship at room temperature using a guaranteed overnight courier
Cost: Contact Molecular Diagnostic Laboratory Director
Turnaround Time: 4-6 weeks from sample receipt. |
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